Background

As a trained mathematician and a lover of story problems from a young age, Mary-Claire King reasoned in the mid-1980s that there must be an inherited genetic component that could explain the high incidence of breast cancer in certain families. Her statistical models proved that there was a genetic factor to be discovered—the degree of association between breast cancer and family history exceeded coincidence. Her research associated high risk with inheritance of a segment of chromosome 17, and she named the putative gene that would be found there BRCA1. This led to a race to identify and sequence the gene, which the University of Utah and Myriad Genetics, Inc, a spinoff company, won with the help of refined and complex equipment and resources (Neill, 2019). A team in the UK identified another gene in 1994, BRCA2, and determined most of its sequence in 1995, although Myriad filed a patent application with the full gene sequence a day before the UK group’s publication. The full significance of these genes as tumor suppressors involved in DNA repair was not yet known, but the discovery of cancer-associated variants in these two genes would go on to illustrate the role of complex genetic traits in breast and ovarian cancer risk.

 

 

Additionally, due to inheritance of three “founder” mutations, those of Ashkenazi Jewish descent have a greater prevalence of BRCA mutations (“Breast Cancer: Fact Sheet”, 2008). Genetic testing is recommended to patients who meet certain criteria, including a personal or family history of breast or ovarian cancer before the age of 50, Ashkenazi lineage, or presence of male breast cancer in the family (“BRCA Gene Test,” 2019).

In addition to the acclaim of being the first to sequence both the BRCA1 and BRCA2 genes, Myriad Genetics was later granted patents for both, and held a US monopoly on genetic testing from 1998 to 2013. As a result of these patents, no other clinical diagnostic labs offered BRCA testing, gathered variant data for those two genes, or offered second opinions or oversight on the clinical significance of the variants identified. Myriad Genetics set the price for the genetic test for US patients, and since they received all of the data from their in-house tests, they were able to build the largest proprietary dataset for BRCA variants when they stopped sharing with public databases in 2004.

Patients and their relatives who accessed genetic testing were left with a new-age problem: the ethical, legal, and policy implications of having a test that predicted high genetic risk but was not a diagnosis. Those with cancer diagnoses had to face the increased risk of recurrence, and those at risk who did not have cancer faced wrenching decisions about mitigating the risk: whether to get tested, and if found to carry a high-risk variant, whether to have preventive surgery to remove breasts and ovaries. These struggles were unique to those with high-risk BRCA variants. They formed a community and eagerly sought advice and counsel from their physicians, genetic counselors, and peers. 

In the late-1990s, the pink ribbon movement was the symbol for awareness in the breast cancer community, and was led by non-profit organizations like the National Breast Cancer Coalition, the Susan G. Komen Foundation, Y-Me, and other organizations. However, the rapidly growing community of those with BRCA variants wanted more advanced research into their specific variations, and venues to discuss their distinctive support needs. These high-risk patients faced a subset of ethical issues, including work and health insurance discrimination, privacy laws, and limited access to genetic counseling. In addition, many of these patients faced psychological and emotional stressors as they came to terms with their risk, and in many cases, received a diagnosis of a variant with unknown clinical significance with no further guidance on how to manage their risk. As more patients sought answers, the emerging community formed its own advocacy organizations, feeling that inherited cancer risk was recognized but often overlooked on the policy agenda of national breast and ovarian cancer organizations. Susan Friedman and others founded Facing Our Risk of Cancer Empowered (FORCE) to fill this need, and introduced the term “previvor” in 2000 to describe those who carried high-risk variants but did not have a cancer diagnosis (“Hereditary Cancer,” n.d.). This term helped many groups of patients with inherited cancer risk rally around common issues in a new national organization. In 2012, Andrea Downing, a Community Data Organizer and BRCA1 mutation carrier herself, coined the term “BRCActivism” to promote shared ideals and identities for her fellow advocates. BRCActivists’ role in the fight for their own data and research rights is now more than a twenty-year saga that highlights how a community of patients, researchers, clinicians, and other stakeholders organized and advocated for change.

 

The Rise of FORCE

As more people started to undergo genetic testing in the late 1990s, it became clear that there was no recognized community for hereditary cancer risk. Although there were support groups and national organizations for those with breast cancer, there was existing tension between survivors and previvors who were struggling for recognition and resources. FORCE was born out of need, and became a safe space for those seeking answers in the new age of widespread genetic testing. Sue Friedman, a trained veterinarian, founded FORCE in 1999 after learning she was a BRCA2 mutation carrier. Although she was Ashkenazi Jewish, had a history of cancer in her family, and was a young woman of only 33, she was not offered testing until after her recurrence of breast cancer. She was then faced with the same agonizing decisions and questions of previvors in 1997, with no national-scale organized support group to turn to. There was no collective sense of mutation carriers, and no resources for the high-risk community to educate them on these decisions. Many went with the recommendations of their physicians, most of whom were disinclined to recommend prophylactic surgery despite knowledge of genetic risk. For Friedman, seeking support in that climate was nearly impossible, and she decided to create FORCE. 

FORCE started out as a general messaging board, with a vision of sustainability and accountability. Friedman set the foundation of the organization to include a scientific advisory board and a board of directors, with the hope of providing an unbiased resource of evidence-based information that would help previvors make their own health decisions. Following the mantra of “knowledge is power,” FORCE took a different path.  While most support groups for cancer discouraged genetic testing, at least outside formal clinical studies, FORCE addressed the information and support needs of those making decisions about whether to get tested and what to do if they tested positive. Friedman was concerned at the time that as a community, the hereditary cancer stakeholders were not given a place at the table during research and policy debates. She wanted FORCE to champion the idea that if high-risk patients—including BRCA mutation carriers—were excluded, their distinctive needs for evidence concerning prevention, screening, diagnosis, and treatment would not be addressed. She also wanted researchers, clinicians, and policymakers to recognize that hereditary cancer risk was a significant health burden for those affected. 

As Friedman increased FORCE’s employee base, the organization’s reach grew from the message board to online and in-person support groups, trained moderators, and eventually an annual conference. After hiring Lisa Schlager, FORCE’s current Vice President of Community Affairs & Public Policy, FORCE expanded its reach into public policy, and coordinated its first efforts in support of the Genetic Information Nondiscrimination Act (GINA) in 2008. FORCE developed one of the largest libraries for evidence-based information, and started advocacy training for interested members in 2012. FORCE emerged as the pioneer non-profit for hereditary cancer risk, broadening to include those facing inherited risk of colorectal, pancreatic, hematologic and other cancers, and serving as a home base and a national voice. 

 

The Facebook Following

As FORCE’s reach grew, many members started to form their own support groups in specific sectors, including topics like research, specific variants, differing views on prophylactic surgery, specific cancers, and post-surgery support. These diverging groups formed on many online platforms, but the social media giant, Facebook, became a popular avenue to both organize as well as recruit members. Many attendees at FORCE conferences were introduced to groups like BRCA Sisterhood, and BRCA Advanced. With the private and secret group options on Facebook, members could share on these pages in ways that they would never share publicly: concerns about surgeries or families, post-operative advice and journeys, and highly personal photographs and family information. Individuals who tested positive for a BRCA mutation could find these groups by doing a simple Facebook search, and get accepted into an online community. Similar to FORCE, many Facebook groups had assigned moderators whose role was to monitor discussion among members, debunk misinformation, call attention to new research, answer general questions, and connect people with resources ranging from clinical trial opportunities to recommended surgeons. Although a few Facebook groups rose to the top in terms of membership, an extensive network of support communities formed through many branches. If there was interest in a particular area of advocacy or research, a proactive member could simply form another group.

 BRCA Advanced, for example, was created by Lisa Marie Guzzardi. It rose out of the need for a research-focused group to “foster knowledge and discussion via scientific studies and noteworthy articles pertaining to the entire high risk hereditary cancer population” (“BRCA Advanced, n.d.). BRCA Sisterhood grew as a support-focused community of over 10,000 members for those with BRCA1, BRCA2, or other hereditary cancer mutations. Beyond the Pink Moon, founded by Nicki Boscia Durlester and almost 8,000 strong, came about as a support group for those with breast or ovarian cancer as well as BRCA previvors. Facebook-based groups served members of the BRCA community, providing guidance and emotional support, as well as access to research and policy updates.  

 

Free the Data

In 2013, BRCActivists went to war. The American Civil Liberties Union (ACLU) and the Public Patent Foundation challenged Myriad Genetics on the basis that the patents they held giving them a US monopoly on BRCA testing were invalid. The case went all the way to the US Supreme Court. Association for Molecular Pathology v. Myriad Genetics galvanized the community of stakeholders invested in the outcome. Many patient advocates and researchers believed that if genes were declared unpatentable, there would be increased access to testing and reduced barriers for advanced research. Multiple breast cancer and BRCA-focused organizations had been following the case since before the suit was filed in May 2009, and had been coordinating response efforts and contributing to the dialogue. For a community that had operated in the shadows of larger breast and ovarian cancer awareness organizations for over a decade, this case brought their cause into the spotlight, and presented a chance to advocate for hereditary cancer risk on a national level. 

At the core of this movement, the ACLU was fighting to liberate patients’ access to their own genetic information (“Myriad Genetics Relents, 2015). However, each contributor to the case had a different stake in the war. Breast Cancer Action (BCAction), a self-declared “watchdog” organization that is the voice for the public health crisis of breast cancer and the systemic social justice issues surrounding the disease, joined the lawsuit as a plaintiff. BCAction believed that Myriad’s patents had caused harm to patients in numerous ways, including high testing costs, blocking the development of new tests as well as data sharing, and undermining research (“BCAction Joins,” 2013). 

As the largest national patient advocacy organization that represented the BRCA community, FORCE played a vital role in the case. It was not a plaintiff, but several individual FORCE members were. FORCE educated members on the details of the lawsuit as it progressed through the court system and mobilized their advocacy trainees. They submitted an amicus brief to the court about the harmful effects of gene patents on members of their community, participated in media interviews, testified to the Patent and Trademark Office, and advocated on the steps of the Supreme Court in Washington D.C. The rally on the steps awaiting the Supreme Court’s decision was co-organized by BCAction and Andrea Downing, an advocate, blogger, and “free-agent” spokesperson. Members of various Facebook support groups, FORCE, and other advocates flew to D.C. from across the country to rally. Lisa Schlager spoke to the press on behalf of FORCE and the hereditary cancer community. These interviews, along with the public awareness that came from Angelina Jolie’s op-ed in the New York Times about her BRCA1 mutation and preventative mastectomy, riveted public attention on how this court decision would directly impact patients and their care. The patient voice, central to the debate, was enabled in part by the e-patient communities that connected them to researchers and clinicians and allowed them to fight for data access. On June 13, 2013, the United States Supreme Court unanimously ruled in favor of the Association for Molecular Pathology and declared that human genes were not patentable. The Myriad monopoly was over.

 

The Light Collective

After the Cambridge Analytica scandal, founders of the many Facebook groups and other social media community platforms were faced with serious fallout. After many years of discussion and sharing amongst members, Andrea Downing discovered, and cybersecurity expert Fred Trotter confirmed, that personal data could be scraped from these networks without permission, including on “private” Facebook groups. Besides violating the privacy of members, exposure of this data could be used against members by state actors or businesses with financial interest, or to direct advertising. Private data about their cancer diagnoses or genetic mutations, tied to a participant’s name by Facebook’s policy of not allowing pseudonyms, could be used to increase their health insurance rates, alter their health care benefits, or to discriminate against them without the individual ever knowing it. This controversy led groups to advocate on behalf of their networks, and many felt violated. Many wanted to move to a more secure platform to find a safe place they could trust, to continue their invaluable information-sharing and mutual support.

The Light Collective, formed by patient activists, online group moderators, coders, health experts, and journalists, emerged in the wake of the Cambridge Analytica data breach in 2019. Andrea Downing and Fred Trotter led the charge of the investigation into the security protections that existed for the Facebook group she monitored, BRCA Sisterhood. With the help of cybersecurity experts, the Light Collective is leading efforts to explore the root privacy concerns of online patient networks, and to protect all patient and peer groups (The Light Collective, 2019). 

Future Directions

The BRCActivist movement as a whole has always emphasized the phrase, “nothing about us without us.” When this community expanded to online support groups, it created an ecosystem that would help patient advocates participate in the research and policy worlds of genetics, cancer, and data-sharing. These online communities drove the narrative of their experiences through personal stories and coordination. Whether they are the watchdogs of BCAction, the moderators and research coordinators of FORCE, the moderators of online support groups, or participants on the multitude of online communities, the BRCActivists will always be on the front lines of the next battle. When these advocates, including previvors, survivors, and stakeholders, have a seat at the table, the research, policies, and clinical care will be shaped to benefit and support patients.